特発性拡張型心筋症

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
single nucleotide variant	NM_001267550.2(TTN):c.54190+1G>A	TTN	Pathogenic/Likely pathogenic	2	179469713	179469713	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA1993679
Deletion	NM_004006.3(DMD):c.2052_2053del (p.Val685fs)	DMD	Pathogenic	X	32563391	32563392	ACT	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605838
Deletion	NM_001267550.2(TTN):c.51459_51462del (p.Asp17153fs)	TTN	Likely pathogenic	2	179474688	179474691	CTACA	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA10605859
Indel	NM_170707.4(LMNA):c.65_66delinsT (p.Ser22fs)	LMNA	Pathogenic	1	156084774	156084775	CG	T	criteria provided, single submitter	ClinGen:CA10605892
Duplication	NM_004006.3(DMD):c.5360dup (p.Asn1787fs)	DMD	Pathogenic	X	32366610	32366611	G	GT	criteria provided, single submitter	ClinGen:CA10605960
single nucleotide variant	NM_004006.3(DMD):c.10572T>A (p.Tyr3524Ter)	DMD	Pathogenic	X	31165617	31165617	A	T	criteria provided, single submitter	ClinGen:CA10605988
single nucleotide variant	NM_004006.3(DMD):c.186+2T>A	DMD	Pathogenic	X	32867843	32867843	A	T	criteria provided, single submitter	ClinGen:CA10605993
Duplication	NM_001267550.2(TTN):c.99919_99920dup (p.Ala33308fs)	TTN	Likely pathogenic	2	179401915	179401916	G	GGA	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606032
single nucleotide variant	NM_004006.3(DMD):c.2861G>A (p.Trp954Ter)	DMD	Pathogenic	X	32490369	32490369	C	T	criteria provided, single submitter	ClinGen:CA10606101
single nucleotide variant	NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter)	TTN	Pathogenic/Likely pathogenic	2	179395588	179395588	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA10606117